Phenotype #0000253979

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00358764
Associated disease	OCMD
Phenotype details	ERG-full field normal, central dysfunction; funduscopy pale disc; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone
Diagnosis/Initial	occult macular dystrophy
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	79y (79 years)
Age/Diagnosis	-
Age/Onset	79y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Johan den Dunnen
Date created	2021-03-11 17:30:37 +01:00 (CET)
Date last edited	N/A

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